MPD1
MCID: LNG097
MIFTS: 26

Liang Distal Myopathy (MPD1) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Liang Distal Myopathy

Aliases & Descriptions for Liang Distal Myopathy:

Name: Liang Distal Myopathy 54
Laing Early-Onset Distal Myopathy 23 50 24 25 56 66
Laing Distal Myopathy 23 50 24 25 66 13
Mpd1 25 56 66
Distal Myopathy Type 1 56 29
Myopathy, Distal, 1 54 66
Distal Myopathy 1 25 66
Myopathy Distal Early-Onset Autosomal Dominant 66
Myopathy Late Distal Hereditary 66
Welander Distal Myopathy 69
Myopathy Distal, Type 1 50
Gowers Disease 56

Characteristics:

Orphanet epidemiological data:

56
laing early-onset distal myopathy
Inheritance: Autosomal dominant; Age of onset: Childhood;

GeneReviews:

23
liang distal myopathy:
Inheritance autosomal dominant inheritance
Onset and clinical course phenotypic variability infantile onset slow progression childhood onset


GeneReviews:

23
Penetrance Penetrance appears to be at least 85%. ...

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 160500
Orphanet 56 ORPHA59135
ICD10 via Orphanet 34 G71.0
MedGen 40 CN074249
MeSH 42 D049310

Summaries for Liang Distal Myopathy

NIH Rare Diseases : 50 laing distal myopathy is a slowly progressive muscle disorder that tends to begin in childhood.   early symptoms include weakness in the feet and ankles, followed by weakness in the hands and wrists. weakness in the feet leads to tightening of the achilles tendon, an inability to lift the big toe, and a high-stepping walk.  weakness in the hands makes it more difficult to lift the fingers, especially the third and fourth fingers. as the muscle weakness slowly progresses over the course of many years, other muscles of the body (e.g., neck, face, legs, hips, and shoulders) weaken. most affected people remain mobile throughout life. life expectancy is normal. laing distal myopathy is caused by mutations in the myh7 gene and is inherited in an autosomal dominant fashion. last updated: 4/1/2011

MalaCards based summary : Liang Distal Myopathy, also known as laing early-onset distal myopathy, is related to myopathy and inclusion body myositis, and has symptoms including myalgia, high palate and gait disturbance. An important gene associated with Liang Distal Myopathy is MYH7 (Myosin Heavy Chain 7). Affiliated tissues include skeletal muscle.

UniProtKB/Swiss-Prot : 66 Myopathy, distal, 1: A muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease.

Genetics Home Reference : 25 Laing distal myopathy is a condition that affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes progressive muscle weakness that appears in childhood. The first sign of Laing distal myopathy is usually weakness in certain muscles in the feet and ankles. This weakness leads to tightening of the Achilles tendon (the band that connects the heel of the foot to the calf muscles), an inability to lift the first (big) toe, and a high-stepping walk. Months to years later, muscle weakness develops in the hands and wrists. Weakness in these muscles makes it difficult to lift the fingers, particularly the third and fourth fingers. Many affected people also experience hand tremors.

Description from OMIM: 160500
GeneReviews: NBK1433

Related Diseases for Liang Distal Myopathy

Diseases related to Liang Distal Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 myopathy 10.2
2 inclusion body myositis 9.8
3 myositis 9.8

Symptoms & Phenotypes for Liang Distal Myopathy

Symptoms by clinical synopsis from OMIM:

160500

Clinical features from OMIM:

160500

Human phenotypes related to Liang Distal Myopathy:

32 (show all 18)
id Description HPO Frequency HPO Source Accession
1 myalgia 32 HP:0003326
2 high palate 32 HP:0000218
3 gait disturbance 32 HP:0001288
4 scoliosis 32 HP:0002650
5 facial palsy 32 HP:0010628
6 elevated serum creatine phosphokinase 32 HP:0003236
7 pes cavus 32 HP:0001761
8 ragged-red muscle fibers 32 HP:0003200
9 type 1 muscle fiber predominance 32 HP:0003803
10 mildly elevated creatine phosphokinase 32 HP:0008180
11 dilated cardiomyopathy 32 HP:0001644
12 distal muscle weakness 32 HP:0002460
13 proximal muscle weakness 32 HP:0003701
14 weakness of long finger extensor muscles 32 HP:0009077
15 neck muscle weakness 32 HP:0000467
16 emg 32 HP:0003445
17 amyotrophy of ankle musculature 32 HP:0009031
18 toe extensor amyotrophy 32 HP:0011916

UMLS symptoms related to Liang Distal Myopathy:


myalgia

Drugs & Therapeutics for Liang Distal Myopathy

Search Clinical Trials , NIH Clinical Center for Liang Distal Myopathy

Genetic Tests for Liang Distal Myopathy

Genetic tests related to Liang Distal Myopathy:

id Genetic test Affiliating Genes
1 Myopathy, Distal, 1 29
2 Laing Distal Myopathy 24 MYH7

Anatomical Context for Liang Distal Myopathy

MalaCards organs/tissues related to Liang Distal Myopathy:

39
Skeletal Muscle

Publications for Liang Distal Myopathy

Variations for Liang Distal Myopathy

UniProtKB/Swiss-Prot genetic disease variations for Liang Distal Myopathy:

66
id Symbol AA change Variation ID SNP ID
1 MYH7 p.Arg1500Pro VAR_022369 rs121913647
2 MYH7 p.Ala1663Pro VAR_022370 rs797044601
3 MYH7 p.Leu1706Pro VAR_022371 rs797044602
4 MYH7 p.Thr441Met VAR_042785 rs121913653

ClinVar genetic disease variations for Liang Distal Myopathy:

6 (show all 25)
id Gene Variation Type Significance SNP ID Assembly Location
1 MYH7 NM_000257.3(MYH7): c.4499G> C (p.Arg1500Pro) single nucleotide variant Pathogenic rs121913647 GRCh37 Chromosome 14, 23886382: 23886382
2 MYH7 NM_000257.3(MYH7): c.5186_5188delAGA (p.Lys1729del) deletion Pathogenic rs367543052 GRCh37 Chromosome 14, 23884685: 23884687
3 MYH7 NM_000257.3(MYH7): c.1988G> A (p.Arg663His) single nucleotide variant Pathogenic rs371898076 GRCh37 Chromosome 14, 23896042: 23896042
4 MYH7 NM_000257.3(MYH7): c.4522_4524delGAG (p.Glu1508del) deletion Pathogenic rs397516220 GRCh37 Chromosome 14, 23886197: 23886199
5 MYH7 NM_000257.3(MYH7): c.5401G> A (p.Glu1801Lys) single nucleotide variant Likely pathogenic rs397516248 GRCh37 Chromosome 14, 23884362: 23884362
6 MYH7 NM_000257.3(MYH7): c.5740G> A (p.Glu1914Lys) single nucleotide variant Likely pathogenic rs397516254 GRCh37 Chromosome 14, 23883018: 23883018
7 MYH7 NM_000257.3(MYH7): c.4442T> C (p.Leu1481Pro) single nucleotide variant Pathogenic rs587779414 GRCh37 Chromosome 14, 23886439: 23886439
8 MYH7 NM_000257.3(MYH7): c.4622A> C (p.Gln1541Pro) single nucleotide variant Pathogenic rs587779389 GRCh37 Chromosome 14, 23886099: 23886099
9 MYH7 NM_000257.3(MYH7): c.4795A> C (p.Thr1599Pro) single nucleotide variant Pathogenic rs587779390 GRCh37 Chromosome 14, 23885371: 23885371
10 MYH7 NM_000257.3(MYH7): c.4823G> C (p.Arg1608Pro) single nucleotide variant Pathogenic rs587779391 GRCh37 Chromosome 14, 23885343: 23885343
11 MYH7 NM_000257.3(MYH7): c.4937T> C (p.Leu1646Pro) single nucleotide variant Pathogenic rs587779393 GRCh37 Chromosome 14, 23885229: 23885229
12 MYH7 NM_000257.3(MYH7): c.4985G> C (p.Arg1662Pro) single nucleotide variant Pathogenic rs370328209 GRCh37 Chromosome 14, 23885010: 23885010
13 MYH7 NM_000257.3(MYH7): c.5005_5007delGAG (p.Glu1669del) deletion Pathogenic rs587779394 GRCh37 Chromosome 14, 23884988: 23884990
14 MYH7 NM_000257.3(MYH7): c.5186_5188dupAGA (p.Lys1729_Met1730insLys) duplication Pathogenic rs587779395 GRCh37 Chromosome 14, 23884685: 23884687
15 MYH7 NM_000257.3(MYH7): c.5378_5380delTGC (p.Leu1793del) deletion Pathogenic rs587779396 GRCh37 Chromosome 14, 23884383: 23884385
16 MYH7 NM_000257.3(MYH7): c.4906G> C (p.Ala1636Pro) single nucleotide variant Pathogenic rs587779415 GRCh37 Chromosome 14, 23885260: 23885260
17 MYH7 NM_000257.3(MYH7): c.5566G> A (p.Glu1856Lys) single nucleotide variant Pathogenic rs797044598 GRCh37 Chromosome 14, 23883305: 23883305
18 MYH7 NM_000257.3(MYH7): c.5117T> C (p.Leu1706Pro) single nucleotide variant Pathogenic rs797044602 GRCh37 Chromosome 14, 23884878: 23884878
19 MYH7 NM_000257.3(MYH7): c.4987G> C (p.Ala1663Pro) single nucleotide variant Pathogenic rs797044601 GRCh38 Chromosome 14, 23415799: 23415799
20 MYH7 NM_000257.3(MYH7): c.4850_4852delAGA (p.Lys1617del) deletion Pathogenic rs121913648 GRCh37 Chromosome 14, 23885314: 23885316
21 MYH7 NM_000257.3(MYH7): c.4807G> C (p.Ala1603Pro) single nucleotide variant Pathogenic rs730880809 GRCh37 Chromosome 14, 23885359: 23885359
22 MYH7 NM_000257.3(MYH7): c.4772T> C (p.Leu1591Pro) single nucleotide variant Pathogenic/Likely pathogenic rs730880808 GRCh38 Chromosome 14, 23416185: 23416185
23 MYH7 NM_000257.3(MYH7): c.4763G> C (p.Arg1588Pro) single nucleotide variant Pathogenic rs797044600 GRCh38 Chromosome 14, 23416194: 23416194
24 MYH7 NM_000257.3(MYH7): c.4315G> C (p.Ala1439Pro) single nucleotide variant Pathogenic rs797044599 GRCh37 Chromosome 14, 23886750: 23886750
25 MYH7 NM_000257.3(MYH7): c.1544T> C (p.Met515Thr) single nucleotide variant Likely pathogenic rs863224900 GRCh37 Chromosome 14, 23897743: 23897743

Expression for Liang Distal Myopathy

Search GEO for disease gene expression data for Liang Distal Myopathy.

Pathways for Liang Distal Myopathy

GO Terms for Liang Distal Myopathy

Sources for Liang Distal Myopathy

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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